Neuwinger J, Licht P, Munzer B, Sir-Petermann T, Siebzehnrübl E, Wildt L
Department of Obstetrics and Gynecology, University of Erlangen, Germany.
Exp Clin Endocrinol Diabetes. 1996;104(5):400-8. doi: 10.1055/s-0029-1211475.
17 alpha-Hydroxylase Deficiency (17 alpha-OHDS) is a rare defect of steroid biosynthesis, characterized by the inability to synthesize cortisol, androgens or estrogens, by the complete absence of follicular maturation, hypergonadotropic hypogonadism, primary amenorrhea and hypertension. Since the ovaries of such patients contain numerous primordial follicles, we hypothesized that the absence of spontaneous follicular maturation could be due to a lack of aromatizable substrate. To provide this substrate, testosterone was administered either by intra-ovarian injection or by vaginal administration. Ovarian stimulation was performed with human urinary gonadotropins. Follicular maturation and ovulation could be induced by this treatment, as determined from ultrasonography, the analysis of LH, estradiol and progesterone serum levels and the aspiration of oocytes from the mature follicles. Fertilization of these oocytes in vitro, however, did not succeed. We conclude that follicular maturation can be induced in 17 alpha-OHDS by gonadotropins when testosterone is provided as an aromatizable substrate and that estrogens are a necessary component of follicular maturation.
17α-羟化酶缺乏症（17α-OHDS）是一种罕见的类固醇生物合成缺陷病，其特征为无法合成皮质醇、雄激素或雌激素，完全没有卵泡成熟、高促性腺激素性性腺功能减退、原发性闭经以及高血压。由于此类患者的卵巢含有大量原始卵泡，我们推测缺乏自发卵泡成熟可能是由于缺乏可芳香化的底物。为提供这种底物，通过卵巢内注射或经阴道给药给予睾酮。用人尿促性腺激素进行卵巢刺激。通过超声检查、LH、雌二醇和孕酮血清水平分析以及从成熟卵泡抽吸卵母细胞确定，这种治疗可诱导卵泡成熟和排卵。然而，这些卵母细胞的体外受精未成功。我们得出结论，当提供睾酮作为可芳香化底物时，促性腺激素可诱导17α-OHDS患者的卵泡成熟，并且雌激素是卵泡成熟的必要组成部分。
